Cystinuria: the South Indian experience.

Cystinuria is reportedly a rare condition affecting the stone patients in India. This paper presents the occurrence of cystine-related abnormality in the population of stone patients reporting to the hospitals in South India. Two thousand and eight hundred urine samples from 1,300 patients attending the urinary stone clinic during the period 2004-2008 were assessed for cystinuria by performing the nitroprusside test on the early morning urine and random samples on the day of attendance. Urinary deposits were also studied in all the patients. Stones retrieved from 800 stone patients were analysed qualitatively and by Fourier Transform infra red (FTIR) spectroscopy. Cystinuria was identified in only three patients. None of these patients showed cystine crystals. Three other patients out of the 1,300 showed presence of cystine crystals in the urine deposit. FTIR spectroscopy of the stones retrieved from the patients showed presence of cystine in 19 out of the 800 stones analysed (2.375%). None of the patients with cystine in the stones had either cystine crystals in the urine or positive nitroprusside test for cystine. All the patients who had positive cystine, cystine crystals or cystine in stone analysis had other biochemical abnormalities. They were medically managed with appropriate biochemical corrective chemotherapy and had control of stone disease process. All the patients were advised purine restriction in the diet. It is concluded from the study that cystinuria is a rare entity in South India. It, however, exists in a small percentage of stone patients. Specific treatment with D-penicillamine was not administered to the patients in view of the high cost, nonavailability and possible toxicity. The patients considered above did not have intractable stone disease which was not amenable to usual modalities of directed medical therapy.